Index | PMID | Date | Reference |
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3 | 15372108 | 2004 | Kirby, D. M., Salemi, R., Sugiana, C., Ohtake, A., Parry, L., Bell, K. M., Kirk, E. P., Boneh, A., Taylor, R. W., Dahl, H. H., Ryan, M. T., Thorburn, D. R. (2004) NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency Journal of Clinical Investigation . 114 (6): 837-845 . |
4 | 17152068 | 2006 | Sarzi, E., Brown, M., Lebon, S., Chretien, D., Munnich, A., Rotig, A., Procaccio, V. (2006) A novel recurrent mtDNA mutation in ND3 gene causing Leigh syndrome and dystonia American Journal of Medical Genetics . 143A (1): 33-41 . |
5 | 17413873 | 2007 | Chae, J. H., Lee, J. S., Kim, K. J., Hwang, Y. S., Bonilla, E., Tanji, K., Hirano, M. (2007) A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency Pediatric Research . 61 (5, Part 1): 622-624 . |
6 | 18800376 | 2009 | Bandelt, H. J., Salas, A., Taylor, R. W., Yao, Y. G. (2009) Exaggerated status of "novel" and "pathogenic" mtDNA sequence variants due to inadequate database searches Human Mutation . 30 (2): 191-196 . |
7 | 18977334 | 2009 | Valente, L., Piga, D., Lamantea, E., Carrara, F., Uziel, G., Cudia, P., Zani, A., Farina, L., Morandi, L., Mora, M., Spinazzola, A., Zeviani, M., Tiranti, V. (2009) Identification of novel mutations in five patients with mitochondrial encephalomyopathy Biochimica et Biophysica Acta . 1787 (5): 491-501 . |
8 | 19458970 | 2009 | Wang, K., Takahashi, Y., Gao, Z. L., Wang, G. X., Chen, X. W., Goto, J., Lou, J. N., Tsuji, S. (2009) Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia Neurogenetics . 10 (4): 337-345 . |
9 | 20064630 | 2010 | Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 . |
10 | 20972245 | 2011 | Lebre, A. S., Rio, M., Faivre d'Arcier, L., Vernerey, D., Landrieu, P., Slama, A., Jardel, C., Laforet, P., Rodriguez, D., Dorison, N., Galanaud, D., Chabrol, B., Paquis-Flucklinger, V., Grevent, D., Edvardson, S., Steffann, J., Funalot, B., Villeneuve, N., Valayannopoulos, V., de Lonlay, P., Desguerre, I., Brunelle, F., Bonnefont, J. P., Rotig, A., Munnich, A., Boddaert, N. (2011) A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency Journal of Medical Genetics . 48 (1): 16-23 . |
11 | 21364701 | 2011 | Swalwell, H., Kirby, D. M., Blakely, E. L., Mitchell, A., Salemi, R., Sugiana, C., Compton, A. G., Tucker, E. J., Ke, B. X., Lamont, P. J., Turnbull, D. M., McFarland, R., Taylor, R. W., Thorburn, D. R. (2011) Respiratory chain complex I deficiency caused by mitochondrial DNA mutations European Journal of Human Genetics . 19 (7): 769-775 . |
12 | 21978175 | 2011 | Kumar, S., Bellis, C., Zlojutro, M., Melton, P. E., Blangero, J., Curran, J. E. (2011) Large scale mitochondrial sequencing in Mexican Americans suggests a reappraisal of Native American origins BMC Evolutionary Biology . 11 (): 293 . |
13 | 28429146 | 2017 | Ogawa, E., Shimura, M., Fushimi, T., Tajika, M., Ichimoto, K., Matsunaga, A., Tsuruoka, T., Ishige, M., Fuchigami, T., Yamazaki, T., Mori, M., Kohda, M., Kishita, Y., Okazaki, Y., Takahashi, S., Ohtake, A., Murayama, K. (2017) Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients Journal of Inherited Metabolic Disease . 40 (5): 685-693 . |
14 | 29253894 | 2017 | Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 . |
15 | 30095618 | 2018 | Ma, Y. Y., Li, X. Y., Li, Z. Q., Song, J. Q., Hou, J., Li, J. H., Sun, L., Jiang, J., Yang, Y. L. (2018) Clinical, biochemical, and genetic analysis of the mitochondrial respiratory chain complex I deficiency Medicine (Baltimore) . 97 (32): e11606 . |
16 | 30128709 | 2018 | Wei, Y., Cui, L., Peng, B. (2018) Mitochondrial DNA mutations in late-onset Leigh syndrome Journal of Neurology . 265 (10): 2388-2395 . |
17 | NA | 2019 | Pereira, C., de Souza, C. F., Vedolin, L., Vairo, F., Lorea, C., Sobreira, C., Nogueira, C., Vilarinho, L. (2019) Leigh syndrome due to mtDNA pathogenic variants Journal of Inborn Errors of Metabolism and Screening . 7 (): e20180003; doi:10.1590/2326-4594-jiems-2018-0003 . |
18 | 30199507 | 2019 | Solyman, O., MacIntosh, P. (2019) Leber hereditary optic neuropathy in a mother and faughter associated with m.10197G>A mutation Journal of Neuro-Ophthalmology . 39 (1): 142 . |
19 | 30461153 | 2019 | Kuleva, M., Ben Miled, S., Steffann, J., Bonnefont, J. P., Rondeau, S., Ville, Y., Munnich, A., Salomon, L. J. (2019) Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre BJOG . 126 (11): 1372-1379 . |
20 | 30899856 | 2019 | Fantini, M., Asanad, S., Karanjia, R., Sadun, A. (2019) Hormone replacement therapy in Leber's hereditary optic neuropathy: Accelerated visual recovery in vivo Journal of Current Opththalmology . 31 (1): 102-105 . |
21 | 30978515 | 2019 | Finsterer, J. (2019) Diagnostic and therapeutic aspects of Leigh syndrome due to the variant m.10197G>A Journal of the Neurological Sciences . 400 (): 182-183 . |
22 | 30978516 | 2019 | Severino, M., Nesti, C., Rubegni, A., Tolomeo, D., Santorelli, F. M. (2019) The features of the m.10197G>A mtDNA mutation Journal of the Neurological Sciences . 400 (): 184-185 . |
23 | 32045392 | 2020 | Cui, S., Yang, L., Jiang, H., Peng, J., Shang, J., Wang, J., Zhang, X. (2020) Clinical features of Chinese sporadic Leber hereditary optic neuropathy caused by rare primary mtDNA mutations Journal of Neuro-Ophthalmology . 40 (1): 30-36 . |
24 | 35715829 | 2022 | Navaratnarajah, T., Bellmann, M., Seibt, A., Anand, R., Degistirici, O., Meisel, R., Mayatepek, E., Reichert, A., Baertling, F., Distelmaier, F. (2022) Mesenchymal stem cells improve redox homeostasis and mitochondrial respiration in fibroblast cell lines with pathogenic MT-ND3 and MT-ND6 variants Stem Cell Research and Therapy . 13 (1): 256 . |